The single-nucleotide polymorphism that generates a Glu-to-Lys change at position 487 (E487K) of the cardioprotective enzyme aldehyde dehydrogenase 2 (ALDH2*2) has been linked to both an increased risk of CAD and more severe outcomes, a higher incidence of hypertension and cancer, and an increase in complications from type 2 diabetes. This disease cell model belongs to ALDH, a mutation (E487K) occur in the ALDH2 gene. Generating pluripotent stem cells from fibroblasts, then differentiate into cardiac myocytes. This disease cell model provides a platform to explore disease mechanisms in human genetic cardiac disorders.
| Specifications | |
|---|---|
| Organ System | Cardiovascular System |
| Disease | ALDH |
| Target Gene | ALDH2 |
| Gene Function | The ALDH2*2 genotype is present in ~8% of the human population, predominantly in people of East Asian heritage. |
| Mutation | E487K |
| Phenotype | Increased ROS and toxic aldehydes, cell cycle arrest and activation of apoptotic signaling |
| Source | Fibroblasts |
| Cellular Assays | Immunoblotting |
For Research Use Only. Not For Clinical Use.
